Researchers

Advisory Board

Down syndrome groups participate in Roche Advisory Board

Earlier this week, DSE joined Down syndrome groups from around the world to discuss recent advances in research and clinical trials of pharmaceutical therapies that may improve learning and memory for people with Down syndrome.

DSE's CEO, Frank Buckley, and DSE's Director of Science and Research, Professor Sue Buckley OBE, this week joined representatives of Down syndrome organisations from around the world at a meeting hosted by Roche, a leading healthcare company, to discuss their research into pharmaceutical therapies that may improve learning and memory for people with Down syndrome, and to explore the views of advocacy and support organisations.

Professor Buckley was invited to present a talk on the opening day of the meeting. In her presentation, Sue outlined how research into Down syndrome has developed to build a better understanding of the condition at many levels - genetic, biochemical, neurological, clinical and developmental - and how these various strands of research were increasingly coming together to inform better therapies.

Last year, Roche began studies of a drug (RG1662) that might help improve learning and memory function for people with Down syndrome. A Phase 1 safety and tolerability study of RG1662 involving adults with Down syndrome began at several centres in the US and the UK. Roche also initiated a molecular and functional imaging study of RG1662 with individuals with Down syndrome and healthy controls and a study to evaluate assessments and neurocognitive tests for the measurement of cognitive changes in clinical trials. Roche expects to complete Phase 1 studies later in 2013.

Roche's compound targets specific receptors that are involved in passing signals between nerve cells in specific parts of the brain. It is thought that some of the learning difficulties experienced by people with Down syndrome may result from an over-inhibition of signalling between nerve cells. By counteracting the over-inhibition, it is hoped the drug may lead to improvements in memory function and learning. Roche recently published research investigating a similar compound in mice that carry extra copies of many genes similar to those found on human chromosome 21. The study reported improvements in learning and memory when the mice were treated with the drug.

Frank Buckley commented, "Over the past 50 years, scientific progress in general, and Down syndrome research in particular, has contributed to remarkable improvements in survival and life expectancy for people with Down syndrome. Today, Down syndrome research is delivering better therapies and teaching approaches that are helping many tens of thousands of young people to achieve more than ever before. Tomorrow, there is the promise of new therapies that may further help people with Down syndrome to learn more, achieve more and live more independent and fulfilling lives. Scientists are at the very early stages of human research into pharmaceutical therapies, and the studies needed to demonstrate safety and efficacy will take several years. We need to be prepared for some therapies to fail in human trials, even where there are encouraging studies in animal models. We also need to be realistic about the likely impact of pharmaceutical therapies. They may aid aspects of memory and learning in ways that are helpful to people with Down syndrome. But, they will not offer a 'cure', nor will they eliminate the need for additional support, developmental therapies and effective education for people with Down syndrome. DSE welcomes these advances and Roche's investments aimed at improving the quality of life for people with Down syndrome. We look forward to the carefully planned and rigorously conducted studies that will be needed to assess the benefits and the safety of these compounds."

Further information

Disclosures

Professor Sue Buckley has provided and continues to provide consulting services to F. Hoffman-La Roche Ltd., and receives compensation for these services. Down Syndrome Education International has been engaged to provide advisory services to F. Hoffman-La Roche Ltd., and received compensation for out-of-pocket expenses relating to these services. These disclosures were correct at the time of publication.